PURPOSE
BRIDGES-NBS is a feasibility study evaluating the integration of genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs). We developed a list of conditions for screening.
METHODS
We designed inclusion criteria and assembled an initia...
Nina B. Gold, B. Johnson, H. Somanchi et al.· Genetics in Medicine· 0 citations
Genetic predisposition contributes to a much higher proportion of cancer in children than previously appreciated. This creates a unique opportunity to develop improved methods to identify children at increased risk for cancer, enable early detection or prevention of tumors, and improve cure rates with decreased m...
Suzanne P. MacFarland, Lisa R. Diller, Maria Frazer et al.· Cancer Research· 0 citations
Introduction Cancer is the most common cause of disease-related mortality in children, highlighting the urgent need for improved care in this population. It is estimated that >15% of children diagnosed with cancer harbour a germline pathogenic variant in a cancer predisposition gene which confers an increased risk to d...
Melissa R Perrino, Suzanne P. MacFarland, Luke D. Maese et al.· BMJ Open· 0 citations
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